Wolf-Hirschhorn syndrome

Preferred Label : Wolf-Hirschhorn syndrome;

ICD-11 definition : Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.;

ICD-11 synonym : 4p16.3 deletion; 4p minus syndrome;

Details

Origin ID

1337401724;

UMLS CUI

C1956097;

Currated CISMeF NLP mapping
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Wolf Hirchhorn Syndrome [Disease (Nov.)]
- Wolf Hirschhorn syndrome (disorder) [SNOMED CT concept]
- Wolf-Hirschhorn Syndrome [NCIt concept]
- Wolf-Hirschhorn syndrome [PASCAL descriptor]
- Wolf-Hirschhorn syndrome [MeSH concept]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-Hirschhorn syndrome [DO Concept]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- Wolf-hirschhorn syndrome [OMIM Phenotype]
- wolf-hirschhorn syndrome [MeSH Descriptor]
See also inter- (CISMeF)
- 4p partial monosomy syndrome [SNOMED Notion]
- chromosome 4 short arm deletion [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4p partial monosomy syndrome [SNOMED Notion]
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Deletion of short arm of chromosome 4 [ICD-10 Sub-category]
- Wolf Hirchhorn Syndrome [Disease (Nov.)]
- Wolf Hirschhorn syndrome (disorder) [SNOMED CT concept]
- Wolf-Hirschhorn Syndrome [NCIt concept]
- Wolf-Hirschhorn syndrome [DO Concept]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-Hirschhorn syndrome [MeSH concept]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- Wolf-Hirschhorn syndrome [PASCAL descriptor]
- Wolf-hirschhorn syndrome [OMIM Phenotype]
- wolf-hirschhorn syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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